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Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease

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Abstract

The endothelin-B receptor gene (EDNRB) and the endothelin-3 gene (EDN3) have recently been recognized as susceptibility genes for Hirschsprung's disease (HD). Novel EDNRB mutations have been detected in non-syndrommc HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome. These observations confirm that impaired function of the endothelin-B receptor or endothelin-3 is involved in the aetiology of some human HD cases. EDNRB mutations appear to be associated with shortsegment HD, in contrast to RET mutations, which are found mainly in long-segment aganglionosis.

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  1. Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland

    T. Kusafuka & P. Puri

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  1. T. Kusafuka
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Kusafuka, T., Puri, P. Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease. Pediatr Surg Int 12, 19–23 (1997). https://doi.org/10.1007/BF01194795

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